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NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del) AND Familial cancer of breast

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 24, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003137824.2

Allele description [Variation Report for NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del)]

NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del)
Other names:
NP_000042.3:p.Glu642del; p.Glu642del
HGVS:
  • NC_000011.10:g.108253836GAA[1]
  • NG_009830.1:g.36005GAA[1]
  • NM_000051.4:c.1921GAA[1]MANE SELECT
  • NM_001351834.2:c.1921GAA[1]
  • NP_000042.3:p.Glu642del
  • NP_001338763.1:p.Glu642del
  • LRG_135t1:c.1924_1926del
  • LRG_135:g.36005GAA[1]
  • NC_000011.9:g.108124561_108124563del
  • NC_000011.9:g.108124563GAA[1]
  • NM_000051.3:c.1924_1926del
  • NM_000051.3:c.1924_1926delGAA
  • NM_000051.4:c.1924_1926delMANE SELECT
Protein change:
E642del
Links:
dbSNP: rs876659575
NCBI 1000 Genomes Browser:
rs876659575
Molecular consequence:
  • NM_000051.4:c.1921GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001351834.2:c.1921GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003807769Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jun 9, 2022)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004209561Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Aug 24, 2023)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807769.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PM2 moderated

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

From Baylor Genetics, SCV004209561.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024